Summary

Direct-to-consumer (DTC) personal genome tests claim to provide consumers access to information about their genetic ancestry, susceptibility to traits such as excessive earwax, carrier status for diseases like cystic fibrosis, ability to metabolize drugs like statins, and likelihood of developing diseases such as cancer, Alzheimer's disease, and diabetes—all in one test, for a few hundred dollars, and without involvement of a health-care professional. Proponents of such tests tout the power of making such information easily available, while critics worry about consumer safety and harm that could result from unreliable tests, excessive claims about the meaning of tests or the benefits of being tested, and mis-interpretation of test results (1, 2). The U.S. Government Accountability Office (GAO) raised concerns (3, 4), and the U.S. Federal Trade Commission (FTC) warned consumers to interpret at-home genetic tests with “a healthy dose of skepticism” (5). In 2009, the House Energy and Commerce Committee initiated an investigation into regulation of DTC testing (6).